Incidental Mutation 'R7323:Prpf8'
| ID |
568300 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prpf8
|
| Ensembl Gene |
ENSMUSG00000020850 |
| Gene Name |
pre-mRNA processing factor 8 |
| Synonyms |
Sfprp8l, D11Bwg0410e, DBF3/PRP8, Prp8 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
R7323 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
75377642-75400275 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 75382610 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 439
(Q439K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018449
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018449]
[ENSMUST00000102510]
[ENSMUST00000131283]
|
| AlphaFold |
Q99PV0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018449
AA Change: Q439K
PolyPhen 2
Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000018449
Gene: ENSMUSG00000020850
AA Change: Q439K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PRO8NT
|
58 |
209 |
1.6e-84 |
PFAM |
|
low complexity region
|
369 |
388 |
N/A |
INTRINSIC |
|
Pfam:PROCN
|
393 |
801 |
3.6e-226 |
PFAM |
|
low complexity region
|
802 |
814 |
N/A |
INTRINSIC |
|
Pfam:RRM_4
|
986 |
1079 |
7.1e-49 |
PFAM |
|
Pfam:U5_2-snRNA_bdg
|
1208 |
1343 |
1.9e-73 |
PFAM |
|
Pfam:U6-snRNA_bdg
|
1442 |
1601 |
3.7e-97 |
PFAM |
|
Pfam:PRP8_domainIV
|
1760 |
1990 |
1.5e-132 |
PFAM |
|
JAB_MPN
|
2099 |
2233 |
9.02e-30 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102510
AA Change: Q439K
PolyPhen 2
Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000099568
Gene: ENSMUSG00000020850
AA Change: Q439K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PRO8NT
|
58 |
209 |
1.6e-90 |
PFAM |
|
low complexity region
|
369 |
388 |
N/A |
INTRINSIC |
|
Pfam:PROCN
|
395 |
801 |
2.9e-239 |
PFAM |
|
low complexity region
|
802 |
814 |
N/A |
INTRINSIC |
|
Pfam:RRM_4
|
986 |
1077 |
1.5e-51 |
PFAM |
|
Pfam:U5_2-snRNA_bdg
|
1210 |
1343 |
1.1e-77 |
PFAM |
|
Pfam:U6-snRNA_bdg
|
1442 |
1600 |
4.2e-97 |
PFAM |
|
Pfam:PRP8_domainIV
|
1760 |
1989 |
9.8e-134 |
PFAM |
|
JAB_MPN
|
2099 |
2233 |
9.02e-30 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131283
AA Change: Q384K
PolyPhen 2
Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000115635
Gene: ENSMUSG00000020850
AA Change: Q384K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PRO8NT
|
58 |
92 |
1.9e-13 |
PFAM |
|
Pfam:PRO8NT
|
90 |
154 |
2.5e-30 |
PFAM |
|
low complexity region
|
314 |
333 |
N/A |
INTRINSIC |
|
Pfam:PROCN
|
338 |
746 |
1.7e-226 |
PFAM |
|
low complexity region
|
747 |
759 |
N/A |
INTRINSIC |
|
Pfam:RRM_4
|
931 |
1024 |
5.3e-49 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (73/73) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Pre-mRNA splicing occurs in 2 sequential transesterification steps. The protein encoded by this gene is a component of both U2- and U12-dependent spliceosomes, and found to be essential for the catalytic step II in pre-mRNA splicing process. It contains several WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to yeast Prp8 protein. This gene is a candidate gene for autosomal dominant retinitis pigmentosa. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice that are either heterozygous or homozygous for a knock-in allele exhibit abnormal retinal pigment epithelium morphology and late-onset retinal degeneration. These changes are more severe in homozygous mutant mice. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930524J08Rik |
C |
A |
5: 100,126,945 (GRCm39) |
A9E |
unknown |
Het |
| 6030452D12Rik |
A |
T |
8: 107,227,411 (GRCm39) |
|
probably null |
Het |
| Abcb11 |
C |
A |
2: 69,117,979 (GRCm39) |
Q466H |
probably damaging |
Het |
| Adam20 |
A |
G |
8: 41,248,421 (GRCm39) |
D177G |
probably benign |
Het |
| Ampd1 |
A |
T |
3: 102,992,696 (GRCm39) |
Q150L |
probably benign |
Het |
| Angpt2 |
A |
C |
8: 18,755,840 (GRCm39) |
M209R |
probably benign |
Het |
| Aoc2 |
G |
A |
11: 101,219,371 (GRCm39) |
R598Q |
probably damaging |
Het |
| Arap1 |
A |
G |
7: 101,049,418 (GRCm39) |
D960G |
probably damaging |
Het |
| Bhlhe40 |
G |
C |
6: 108,642,242 (GRCm39) |
L395F |
probably benign |
Het |
| Cacna1i |
T |
C |
15: 80,275,854 (GRCm39) |
C1882R |
possibly damaging |
Het |
| Ccr6 |
A |
G |
17: 8,475,611 (GRCm39) |
N272S |
possibly damaging |
Het |
| Ces1f |
A |
T |
8: 93,998,472 (GRCm39) |
W175R |
probably damaging |
Het |
| Ces3a |
A |
C |
8: 105,782,239 (GRCm39) |
H364P |
possibly damaging |
Het |
| Cfap54 |
T |
C |
10: 92,637,000 (GRCm39) |
M3130V |
probably benign |
Het |
| Clca3b |
G |
A |
3: 144,531,681 (GRCm39) |
P708S |
possibly damaging |
Het |
| Cps1 |
A |
T |
1: 67,197,028 (GRCm39) |
T360S |
probably benign |
Het |
| Cramp1 |
A |
T |
17: 25,201,379 (GRCm39) |
M701K |
possibly damaging |
Het |
| Dnah1 |
A |
G |
14: 31,020,664 (GRCm39) |
I1235T |
probably damaging |
Het |
| Efcab3 |
T |
C |
11: 104,920,837 (GRCm39) |
L4676P |
probably benign |
Het |
| Ergic1 |
A |
G |
17: 26,860,644 (GRCm39) |
E244G |
probably damaging |
Het |
| Fignl2 |
C |
A |
15: 100,951,382 (GRCm39) |
R300L |
unknown |
Het |
| Fry |
T |
C |
5: 150,419,814 (GRCm39) |
M628T |
|
Het |
| Fscn3 |
A |
G |
6: 28,431,544 (GRCm39) |
T292A |
possibly damaging |
Het |
| Fsip2 |
A |
T |
2: 82,819,860 (GRCm39) |
I5198L |
probably benign |
Het |
| Gm4181 |
T |
A |
14: 51,869,990 (GRCm39) |
R104W |
probably damaging |
Het |
| Gnl1 |
G |
A |
17: 36,294,305 (GRCm39) |
R308H |
probably benign |
Het |
| Gtf2h4 |
G |
T |
17: 35,980,857 (GRCm39) |
L271I |
probably damaging |
Het |
| Helq |
GTTT |
GTT |
5: 100,931,051 (GRCm39) |
|
probably null |
Het |
| Hhatl |
A |
T |
9: 121,618,652 (GRCm39) |
W117R |
probably benign |
Het |
| Hlx |
A |
G |
1: 184,462,993 (GRCm39) |
F220L |
probably benign |
Het |
| Il31ra |
T |
C |
13: 112,688,497 (GRCm39) |
I27V |
probably damaging |
Het |
| Itga8 |
T |
G |
2: 12,266,940 (GRCm39) |
D165A |
probably damaging |
Het |
| Krt33a |
A |
C |
11: 99,902,801 (GRCm39) |
V341G |
probably benign |
Het |
| Lrrc3c |
A |
G |
11: 98,490,266 (GRCm39) |
M208V |
possibly damaging |
Het |
| Mapk8ip3 |
A |
T |
17: 25,120,135 (GRCm39) |
S947T |
probably benign |
Het |
| Muc5b |
A |
G |
7: 141,412,444 (GRCm39) |
I1797V |
unknown |
Het |
| Myh2 |
A |
T |
11: 67,088,191 (GRCm39) |
T1936S |
probably benign |
Het |
| Nr1h2 |
T |
C |
7: 44,199,746 (GRCm39) |
Y391C |
possibly damaging |
Het |
| Or1l8 |
T |
A |
2: 36,817,986 (GRCm39) |
I47F |
probably damaging |
Het |
| Or4c114 |
A |
T |
2: 88,904,811 (GRCm39) |
I208K |
probably damaging |
Het |
| Or4e2 |
A |
G |
14: 52,688,670 (GRCm39) |
I267V |
probably benign |
Het |
| Or5d40 |
A |
G |
2: 88,015,952 (GRCm39) |
T244A |
possibly damaging |
Het |
| Phf3 |
A |
G |
1: 30,852,211 (GRCm39) |
M1064T |
probably benign |
Het |
| Pkd1 |
A |
G |
17: 24,794,025 (GRCm39) |
E1904G |
probably benign |
Het |
| Polrmt |
A |
G |
10: 79,576,483 (GRCm39) |
V491A |
probably benign |
Het |
| Ppm1j |
C |
A |
3: 104,691,429 (GRCm39) |
R306S |
probably damaging |
Het |
| Prkd2 |
T |
C |
7: 16,581,547 (GRCm39) |
F134S |
probably benign |
Het |
| Prss50 |
A |
T |
9: 110,692,800 (GRCm39) |
I307F |
possibly damaging |
Het |
| Rgs20 |
A |
G |
1: 4,982,535 (GRCm39) |
|
probably null |
Het |
| Rnf144b |
A |
G |
13: 47,393,258 (GRCm39) |
E199G |
probably damaging |
Het |
| Slc12a4 |
C |
T |
8: 106,682,347 (GRCm39) |
G121S |
probably damaging |
Het |
| Slc22a26 |
A |
T |
19: 7,768,259 (GRCm39) |
V233E |
probably damaging |
Het |
| Slc27a2 |
T |
G |
2: 126,395,124 (GRCm39) |
L17R |
probably benign |
Het |
| Slc6a17 |
A |
G |
3: 107,398,794 (GRCm39) |
V269A |
probably benign |
Het |
| Srp54c |
T |
C |
12: 55,304,237 (GRCm39) |
V395A |
probably benign |
Het |
| Sspo |
A |
T |
6: 48,438,581 (GRCm39) |
S1550C |
possibly damaging |
Het |
| Tet1 |
A |
G |
10: 62,715,818 (GRCm39) |
|
probably benign |
Het |
| Themis |
A |
T |
10: 28,609,497 (GRCm39) |
H88L |
probably benign |
Het |
| Tmem63b |
G |
A |
17: 45,971,773 (GRCm39) |
T814M |
possibly damaging |
Het |
| Tnc |
G |
A |
4: 63,889,469 (GRCm39) |
T1679I |
probably damaging |
Het |
| Tnfrsf11a |
A |
G |
1: 105,772,456 (GRCm39) |
D581G |
probably damaging |
Het |
| Trim30d |
A |
C |
7: 104,132,555 (GRCm39) |
V244G |
probably benign |
Het |
| Trpv1 |
T |
C |
11: 73,151,163 (GRCm39) |
S784P |
possibly damaging |
Het |
| Tulp1 |
G |
A |
17: 28,575,398 (GRCm39) |
T103M |
probably damaging |
Het |
| Ubap2l |
A |
C |
3: 89,922,713 (GRCm39) |
V775G |
unknown |
Het |
| Vmn2r69 |
A |
C |
7: 85,060,972 (GRCm39) |
I204R |
possibly damaging |
Het |
| Vmn2r72 |
T |
A |
7: 85,399,771 (GRCm39) |
D426V |
probably benign |
Het |
| Vmn2r93 |
G |
A |
17: 18,533,497 (GRCm39) |
W467* |
probably null |
Het |
| Wbp2nl |
T |
C |
15: 82,198,542 (GRCm39) |
*360Q |
probably null |
Het |
| Xylt1 |
G |
A |
7: 117,191,274 (GRCm39) |
|
probably null |
Het |
| Zc3h6 |
T |
G |
2: 128,835,331 (GRCm39) |
N123K |
unknown |
Het |
| Zfp853 |
T |
C |
5: 143,275,110 (GRCm39) |
Q185R |
unknown |
Het |
|
| Other mutations in Prpf8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01375:Prpf8
|
APN |
11 |
75,385,121 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01376:Prpf8
|
APN |
11 |
75,385,121 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01393:Prpf8
|
APN |
11 |
75,385,121 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01395:Prpf8
|
APN |
11 |
75,385,121 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01554:Prpf8
|
APN |
11 |
75,386,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01560:Prpf8
|
APN |
11 |
75,381,232 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL01886:Prpf8
|
APN |
11 |
75,386,570 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL01946:Prpf8
|
APN |
11 |
75,390,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02022:Prpf8
|
APN |
11 |
75,392,660 (GRCm39) |
nonsense |
probably null |
|
|
IGL02077:Prpf8
|
APN |
11 |
75,386,635 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02141:Prpf8
|
APN |
11 |
75,381,498 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL02455:Prpf8
|
APN |
11 |
75,400,084 (GRCm39) |
missense |
probably benign |
0.32 |
|
cutter
|
UTSW |
11 |
75,386,252 (GRCm39) |
splice site |
probably null |
|
|
BB009:Prpf8
|
UTSW |
11 |
75,383,423 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
BB019:Prpf8
|
UTSW |
11 |
75,383,423 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
PIT4514001:Prpf8
|
UTSW |
11 |
75,387,181 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0254:Prpf8
|
UTSW |
11 |
75,397,188 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0270:Prpf8
|
UTSW |
11 |
75,396,075 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0504:Prpf8
|
UTSW |
11 |
75,392,768 (GRCm39) |
splice site |
probably benign |
|
|
R0573:Prpf8
|
UTSW |
11 |
75,381,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0613:Prpf8
|
UTSW |
11 |
75,394,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0893:Prpf8
|
UTSW |
11 |
75,384,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0967:Prpf8
|
UTSW |
11 |
75,385,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0975:Prpf8
|
UTSW |
11 |
75,399,500 (GRCm39) |
unclassified |
probably benign |
|
|
R1123:Prpf8
|
UTSW |
11 |
75,386,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1183:Prpf8
|
UTSW |
11 |
75,381,156 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1857:Prpf8
|
UTSW |
11 |
75,386,249 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1901:Prpf8
|
UTSW |
11 |
75,395,570 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1950:Prpf8
|
UTSW |
11 |
75,387,337 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R2116:Prpf8
|
UTSW |
11 |
75,378,547 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R2147:Prpf8
|
UTSW |
11 |
75,381,357 (GRCm39) |
missense |
probably benign |
|
|
R2185:Prpf8
|
UTSW |
11 |
75,377,939 (GRCm39) |
nonsense |
probably null |
|
|
R2271:Prpf8
|
UTSW |
11 |
75,386,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2272:Prpf8
|
UTSW |
11 |
75,386,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2898:Prpf8
|
UTSW |
11 |
75,386,860 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3744:Prpf8
|
UTSW |
11 |
75,397,547 (GRCm39) |
splice site |
probably null |
|
|
R3893:Prpf8
|
UTSW |
11 |
75,391,083 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4400:Prpf8
|
UTSW |
11 |
75,381,528 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4510:Prpf8
|
UTSW |
11 |
75,382,652 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4511:Prpf8
|
UTSW |
11 |
75,382,652 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4784:Prpf8
|
UTSW |
11 |
75,383,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5089:Prpf8
|
UTSW |
11 |
75,400,054 (GRCm39) |
splice site |
probably null |
|
|
R5186:Prpf8
|
UTSW |
11 |
75,380,609 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5215:Prpf8
|
UTSW |
11 |
75,391,030 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5288:Prpf8
|
UTSW |
11 |
75,386,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5362:Prpf8
|
UTSW |
11 |
75,397,236 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5384:Prpf8
|
UTSW |
11 |
75,386,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5386:Prpf8
|
UTSW |
11 |
75,386,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5423:Prpf8
|
UTSW |
11 |
75,399,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5472:Prpf8
|
UTSW |
11 |
75,394,469 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5539:Prpf8
|
UTSW |
11 |
75,394,464 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5620:Prpf8
|
UTSW |
11 |
75,395,927 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5669:Prpf8
|
UTSW |
11 |
75,395,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5887:Prpf8
|
UTSW |
11 |
75,391,734 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5948:Prpf8
|
UTSW |
11 |
75,400,015 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6073:Prpf8
|
UTSW |
11 |
75,384,848 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6250:Prpf8
|
UTSW |
11 |
75,384,334 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6358:Prpf8
|
UTSW |
11 |
75,382,321 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6629:Prpf8
|
UTSW |
11 |
75,386,252 (GRCm39) |
splice site |
probably null |
|
|
R6804:Prpf8
|
UTSW |
11 |
75,390,635 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6922:Prpf8
|
UTSW |
11 |
75,381,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7035:Prpf8
|
UTSW |
11 |
75,395,654 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7038:Prpf8
|
UTSW |
11 |
75,386,984 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7089:Prpf8
|
UTSW |
11 |
75,399,374 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7101:Prpf8
|
UTSW |
11 |
75,381,226 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7114:Prpf8
|
UTSW |
11 |
75,394,181 (GRCm39) |
nonsense |
probably null |
|
|
R7182:Prpf8
|
UTSW |
11 |
75,381,553 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7290:Prpf8
|
UTSW |
11 |
75,384,783 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7485:Prpf8
|
UTSW |
11 |
75,399,738 (GRCm39) |
nonsense |
probably null |
|
|
R7522:Prpf8
|
UTSW |
11 |
75,400,102 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7546:Prpf8
|
UTSW |
11 |
75,399,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7596:Prpf8
|
UTSW |
11 |
75,382,330 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7699:Prpf8
|
UTSW |
11 |
75,391,022 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7731:Prpf8
|
UTSW |
11 |
75,399,732 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7821:Prpf8
|
UTSW |
11 |
75,385,300 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7932:Prpf8
|
UTSW |
11 |
75,383,423 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8039:Prpf8
|
UTSW |
11 |
75,393,368 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8067:Prpf8
|
UTSW |
11 |
75,390,976 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8316:Prpf8
|
UTSW |
11 |
75,390,641 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8560:Prpf8
|
UTSW |
11 |
75,382,600 (GRCm39) |
nonsense |
probably null |
|
|
R8823:Prpf8
|
UTSW |
11 |
75,384,282 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8977:Prpf8
|
UTSW |
11 |
75,386,870 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9116:Prpf8
|
UTSW |
11 |
75,380,589 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9166:Prpf8
|
UTSW |
11 |
75,387,340 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9360:Prpf8
|
UTSW |
11 |
75,381,156 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9453:Prpf8
|
UTSW |
11 |
75,397,212 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9518:Prpf8
|
UTSW |
11 |
75,394,486 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9532:Prpf8
|
UTSW |
11 |
75,385,608 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9626:Prpf8
|
UTSW |
11 |
75,385,681 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9760:Prpf8
|
UTSW |
11 |
75,394,257 (GRCm39) |
missense |
probably benign |
0.20 |
|
X0028:Prpf8
|
UTSW |
11 |
75,397,590 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Prpf8
|
UTSW |
11 |
75,394,160 (GRCm39) |
missense |
probably benign |
0.35 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATACCCCTTGTCAAGAACTGG -3'
(R):5'- CCAGCTTGGTGGACTGAAAG -3'
Sequencing Primer
(F):5'- CAAGAACTGGTGAGGTTTCTCCC -3'
(R):5'- CCAGCTTGGTGGACTGAAAGAATTTG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation